Congenital Central Hypoventilation Syndrome (CCHS)
Use
Congenital central hypoventilation syndrome (CCHS) is a genetic disorder often diagnosed in newborns, characterized by normal breathing while awake but reduced breathing during sleep, leading to various health issues. Genetic confirmation is vital for managing the condition effectively. The PHOX2B gene is primarily associated with CCHS, and identifying mutations in this gene can guide patient care strategies and identify individuals at risk.
Special Instructions
AmbryGen offers family testing at no additional cost for blood relatives of patients undergoing genetic testing if pathogenic variants are found. This testing should be completed within 90 days of the original report, with priority given to more closely related family members. Services are available to patients in the U.S. or U.S. territories only.
Limitations
The test is designed to detect most pathogenic and likely pathogenic variants in the PHOX2B gene, but technical limitations such as sample mix-ups or incomplete knowledge of genes pose a risk for inaccurate results. Not all genetic variants associated with CCHS may be detected due to limitations in the current technology or knowledge. Variants of uncertain significance may be identified, changing as new data emerges.
Methodology
PCR-based (qPCR)
Biomarkers
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided